Acta Medica Port
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Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of autosomal dominant ataxia in the European population. We present the case of a 62-year-old Portuguese patient who developed a slowly progressive gait impairment associated with wide-base ataxic gait, dysarthria, left upper limb dysmetria, and dysdiadochokinesia. ⋯ Genetic testing detected a heterozygotic intronic FGF14 repeat expansion with complete penetrance (> 360 repeats), confirming the diagnosis of SCA27B. To our knowledge, we present the first reported case of SCA27B in the Portuguese population.
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Cardiovascular diseases are the leading cause of death globally. The objective of this study was to estimate the 10-year cardiovascular risk in the Portuguese population using the new Systematic Coronary Risk Evaluation 2. Data from the first National Health Examination Survey from 2015 were used. ⋯ In Portugal, in 2015, 36.7% (95% CI: 34.2 - 39.3) and 6.1% (95% CI: 4.8 - 7.4) of the individuals aged between 40 and 69 years had a high and a very high risk of having a cardiovascular disease in the following 10 years, respectively. In 2015, there was a high percentage (42.8%) of the Portuguese population aged 40 to 69 years in high or very high risk of developing cardiovascular disease (fatal and non-fatal) in the following 10 years. A possible explanation may be the high prevalence of risk factors for cardiovascular disease in Portugal.